HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000382193.2:p.[Asp506_Ala522delinsGluAlaGluThrProProAspHisGlnArgGlyHisAlaGlyGlyArg;His524_Tyr525del;Ser530_Ala536delinsValHis] |
CA1139661930
ENST00000399249.6:c.1518_1519del
|